Distinctive metaphyseal chondrodysplasia simulating cartilage hair hypoplasia

Am J Med Genet. 2001 Apr 1;99(4):289-93. doi: 10.1002/ajmg.1212.

Abstract

We report on a 5(1/2) year-old Italian girl with a distinctive form of metaphyseal chondrodysplasia simulating cartilage hair hypoplasia. The pattern of metaphyseal changes and the associated bony abnormalities differentiate this patient from all the recognized forms of metaphyseal chondrodysplasia.

Publication types

  • Case Reports

MeSH terms

  • Amylases / metabolism
  • Bone and Bones / abnormalities
  • Bone and Bones / diagnostic imaging
  • Cartilage Diseases / diagnosis*
  • Child, Preschool
  • Diagnosis, Differential
  • Family Health
  • Female
  • Humans
  • Osteochondrodysplasias / diagnosis*
  • Osteochondrodysplasias / diagnostic imaging
  • Pancreas / enzymology
  • Radiography

Substances

  • Amylases